Isobutyryl/butyryl-carnitine (C4) Quantitative, Urine
Aids in the differential diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) and isobutyryl-CoA dehydrogenase (IBD) deficiencies. Order to follow up an abnormal newborn screen or plasma acylcarnitine profile with an isolated elevation of C4-carnitine. Use in conjunction with Acylcarnitine Quantitative Profile, Plasma (0040033), Organic Acids, Urine (0098389), and Acylglycines, Quantitative, Urine (0081170).
New York DOH Approval Status
Transfer 2.5 mL urine to an ARUP standard transport tube and freeze immediately. (Min: 1.0 mL)
Frozen. Separate specimens must be submitted when multiple tests are ordered.
Specimens that have been exposed to more than three freeze/thaw cycles.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: Unacceptable; Refrigerated: 1 week; Frozen: 1 month
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reports include age appropriate reference interval.
|Butyrylcarnitine, Urine||Less than or equal to 0.15 mmol/mol creatinine|
Methodology: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
If patient is receiving carnitine supplements, results may not be informative. Clinical correlation is recommended for interpretation of the result.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|3006180||Isobutyryl/butyrylcarnitine Urine Interp|
- Acylcarnitines, urine
- C4 Acylcarnitine
- isobutyryl-CoA dehyrogenase deficiency
- short chain acyl-CoA dehydrogenase deficiency